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WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 391

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Coagulation Factor XI cis Discovery rs6842047 4:187,133,576 C/A 0.11 996 -0.471 0.067 3.7×10-12 -1.080 1.1×10-11 9.2×10-11
Coagulation Factor XI cis Replication rs1511800 4:187,135,556 A/G 0.12 337 -0.108 0.118 0.36 -1.020 0.524 0.523

 

Regional association plots

 

Boxplots and histograms for top associations

Coagulation Factor XI

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Coagulation Factor XI

Target (abbrv.) Coagulation Factor XI
Target (full name) Coagulation Factor XI
Somalogic ID (Sequence ID) SL002662 (2190-55_1)
Entrez Gene Symbol F11
UniProt ID P03951
UniProt Comment
  • Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
Wiki Pathways
  • Blood Clotting Cascade
Reactome
  • Intrinsic Pathway of Fibrin Clot Formation
Pathway Studio
  • Coagulation Cascade

All locus annotations are based on the sentinel SNP (rs6842047) and 18 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
  • KLKB1 kallikrein B, plasma (Fletcher factor) 1
Potentially regulated genes
  • F11 coagulation factor XI
  • FAT1 FAT atypical cadherin 1
eQTL genes
  • CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
  • KLKB1 kallikrein B, plasma (Fletcher factor) 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CYP4V2 in peripheral blood monocytes 1.6×10-20 20502693 (PMID) GRASP2 eQTL
Activated partial thromboplastin time 1×10-12 22703881 (PMID) GRASP2 nonQTL
Gene expression of KLKB1 in blood 7.4×10-9 21829388 (PMID) GRASP2 eQTL
Venous thromboembolism 3.3×10-7 22672568 (PMID) GRASP2 nonQTL
Gene expression of CYP4V2 in blood 3.1×10-6 21829388 (PMID) GRASP2 eQTL
Serum ratio of (hydroxyisovaleroyl carnitine)/(hyodeoxycholate) 1×10-5 21886157 (PMID) GRASP2 metabQTL
Venous thrombosis 1.1×10-5 21980494 (PMID) GRASP2 nonQTL
Serum ratio of (1,7-dimethylurate)/(hippurate) 1.6×10-5 21886157 (PMID) GRASP2 metabQTL
Inflammatory bowel disease 4.5×10-4 Supplemental file